ALDH1A3
Chr 15ARaldehyde dehydrogenase 1 family member A3
Also known as: ALDH1A6, ALDH6, MCOP8, RALDH3
The protein catalyzes the NAD-dependent oxidation of retinal to retinoic acid, which is critical for embryonic development of the eye and nasal region. Autosomal recessive mutations cause isolated microphthalmia type 8, affecting ocular development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.511), consistent with its essential role in early embryonic eye formation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALDH1A3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools